Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1065827
rs1065827 		1 16 65949614 intergenic variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
dbSNP: rs1182554992
rs1182554992
ESR1
1 6 151880688 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs12112075
rs12112075
OGDH
3 0.925 0.080 7 44609201 intron variant G/A snv 1.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 1.000 1 2009 2009
dbSNP: rs12800438
rs12800438
NADSYN1
5 1.000 0.080 11 71459957 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12826786
rs12826786 		26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
12 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 < 0.001 1 2019 2019
dbSNP: rs200960801
rs200960801
ESR1
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 < 0.001 1 2019 2019
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2005 2005
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs3020449
rs3020449
ESR2
10 0.807 0.200 14 64306674 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3020450
rs3020450
ESR2
10 0.807 0.200 14 64301584 splice region variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3087869
rs3087869
COMT
1 22 19953984 intron variant A/G snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
3 0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs3756712
rs3756712
PDCD6 ; AHRR
10 0.790 0.160 5 308981 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3808350
rs3808350
GPER1 ; C7orf50
6 0.882 0.080 7 1086257 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3808351
rs3808351
GPER1 ; C7orf50
7 0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29 0.010 1.000 1 2016 2016